Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene.

Chuang, Gary S.; Martı́nez-Mir, Amalia; Engler, Danielle E.; Gmyrek, Robyn; Zlotogorski, Abraham; Christiano, Angela M.

doi:10.1111/j.1365-2230.2005.01977.x

Cited by 28 publications

(24 citation statements)

References 11 publications

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“…The predisposition to develop MCUL and HLRCC is a germline mutation of the FH gene, identified in 2002 [5]. FH is thought to act as a tumor suppressor gene, as loss of the wild-type allele has been found in biopsies of cutaneous and uterine tumors of patients with MCUL and HLRCC [5,6].…”

Section: Discussionmentioning

confidence: 99%

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

Rongioletti¹,

Fausti²,

Ferrando

et al. 2010

Dermatology

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Background: The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal dominant condition characterized by cutaneous leiomyomatosis in both sexes and uterine leiomyomas in women. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. Methods: We report an Italian family in which the finding of multiple cutaneous leiomyomas in the proband, a 46-year-old woman, led to the diagnosis of Reed’s syndrome and to a general and genetic screening. Results: DNA sequencing in the proband disclosed a missense mutation designated p.Asp341Tyr that has not been reported previously. Interestingly, the patient’s mother had a clear-cell-type renal cancer removed at the age of 57 years. Conclusion: Cutaneous leyomiomas are the clinical and histological clue leading to the diagnosis of MCUL or HLRCC. Dermatologists should be aware that a correct evaluation of a patient with cutaneous leiomyomas involves a complete medical and family history, physical examination and a genetic counseling.

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Section: Discussionmentioning

confidence: 99%

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

Rongioletti¹,

Fausti²,

Ferrando

et al. 2010

Dermatology

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“…To date, more than 120 FH mutation-positive HLRCC families have been identified worldwide. Benign leiomyomas occur with high penetrance in these families, but malignant RCC tumors are found in about 20% of the families (Tomlinson et al, 2002;Alam et al, 2003Alam et al, , 2005Toro et al, 2003;Chan et al, 2005;Badeloe et al, 2006;Chuang et al, 2006;Lehtonen et al, 2006Lehtonen et al, , 2007Wei et al, 2006;Refae et al, 2007). HLRCC renal carcinomas typically occur at young age and are solitary, unilateral, and associated with aggressive disease course (Launonen et al, 2001;Grubb et al, 2007).…”

Section: Introductionmentioning

confidence: 97%

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

Koski

Lehtonen

Jee

et al. 2009

Genes Chromosomes & Cancer

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Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome with cutaneous and uterine leiomyomatosis as well as renal cell cancer (RCC) as its clinical manifestations. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (fumarase) gene. In this study, we used array comparative genomic hybridization to identify the specific copy number changes characterizing the HLRCC-associated RCCs. The study material comprised formalin-fixed paraffin-embedded renal tumors obtained from Finnish patients with HLRCC. All 11 investigated tumors displayed the papillary type 2 histopathology typical for HLRCC renal tumors. The most frequent copy number changes detected in at least 3/11 (27%) of the tumors were gains in chromosomes 2, 7, and 17, and losses in 13q12.3-q21.1, 14, 18, and X. These findings provide genetic evidence for a distinct copy number profile in HLRCC renal tumors compared with sporadic RCC tumors of the same histopathological subtype, and delineate chromosomal regions that associate with this very aggressive form of RCC.

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“…Bu olgularda fumarat hidrataz geninde mutasyon saptanmıştır (2,(4)(5)(6)(7)(8). Hastamızda buna yönelik olarak genetik araştırma yapılması planlanmasına karşın ekonomik nedenlerle fumarat hidrataz gen mutasyonu araştırılamadı.…”

Section: Discussionunclassified

Leiomyomatosis Cutis

Ürkmez¹,

Ertam²,

Karaarslan³

et al. 2011

Turk J Dermatol

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IV. Ege Dermatoloji Günleri'nde poster sunumu yapılmıştır. ÖzetLeiyomyomatozis kutis, düz kas hücrelerinden kaynaklanan, genellikle alt ekstremitede yerleşen, oval şekilli, kırmızı-kahverenkli, papülonodüler lezyonlarla karakterize nadir görülen bir hastalıktır. Elli üç yaşındaki kadın hasta vücutta çok sayıda ağrılı kabarıklık yakınmasıyla polikliniğimize başvurdu. Özgeçmişinde iskemik atak, uterin leiyomyom nedeni ile total histerektomi, sağ ooferektomi operasyonu, nefrolitiazis ve renal kist hikayesi mevcuttu. Dermatolojik bakısında sırtta sol skapular alanda, bilateral gluteal ve alt ekstremitelerde ağrılı, kırmızı-kahverenkli, gruplar halinde dağılım gösteren çok sayıda papülonodüler lezyonlar izlendi. Lezyondan alınan biyopsinin histopatolojik incelemesi ile leiyomyom tanısı kondu. Ağrıya yönelik olarak başlanan gabapentin, parasetamol, tramadol hidroklorür ve amitriptilin tedavisi ile üç hafta sonunda semptomlarda kısmi düzelme sağlandı. Hastamız ülkemizden bildirilen ilk leiyomyomatozis kutis olgu bildirisi olma özelliğindedir. ( AbstractLeiomyomatosis cutis is a rare disease characterized by oval shaped, red-brown follicular groups of papulonodular lesions especially located on the lower limbs, in which the lesions originate from smooth muscle cells. A fifty-three-year-old female patient was admitted to our clinic with multiple painful nodules on the body. An ischemic stroke, total hysterectomy for leiomyoma, oopherectomy, nephrolitiasis and renal cysts were present in her past medical history. Dermatologic examination revealed multiple, painful, red-brown nodules forming clusters on the left scapular area, bilateral gluteal area and lower limbs. Histopathological examination of the lesional biopsy diagnosed as leiomyoma. Treatment started with gabapentin, paracetamol, tramadol hydrochloride and, amitriptyline, which produced relief of the pain at the end of three weeks. To the best of our knowledge, this is the first case report in our country. (Turk J Dermatol 2011; 5: 101-3)

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Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene.

Cited by 28 publications

References 11 publications

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

Leiomyomatosis Cutis

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